Gene Summary

Name:
lysine (K)-specific demethylase 8
Synonyms:
Jmjd5,  3110005O21Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
irregularly shaped pupil Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 5.40×10-05
increased circulating potassium level Kdm8tm1a(EUCOMM)Wtsi HET Early adult 2.77×10-07
abnormal response to tactile stimuli Kdm8tm1a(EUCOMM)Wtsi HET Early adult 3.53×10-07
embryonic lethality prior to tooth bud stage Kdm8tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased IgE level Kdm8tm1a(EUCOMM)Wtsi HET Early adult 7.10×10-06
abnormal iris morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 4.65×10-05
abnormal retina blood vessel morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 9.46×10-06
impaired pupillary reflex Kdm8tm1b(EUCOMM)Wtsi HET Early adult 5.93×10-05
preweaning lethality, incomplete penetrance Kdm8tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal behavior Kdm8tm1a(EUCOMM)Wtsi HET Early adult 5.48×10-07
increased body weight Kdm8tm1a(EUCOMM)Wtsi HET   Early adult 1.57×10-05
abnormal retina vasculature morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 3.15×10-05
fused cornea and lens Kdm8tm1b(EUCOMM)Wtsi HET Early adult 7.77×10-05
abnormal behavior Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.51×10-05
abnormal lens morphology Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.69×10-05
abnormal optic disk morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 3.47×10-05
preweaning lethality, complete penetrance Kdm8tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal iris pigmentation Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 5.53×10-05
abnormal iris pigmentation Kdm8tm1a(EUCOMM)Wtsi HET Early adult 2.79×10-05
abnormal coat/ hair morphology Kdm8tm1a(EUCOMM)Wtsi HET   Early adult 2.79×10-05
cataract Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.73×10-05
iris synechia Kdm8tm1b(EUCOMM)Wtsi HET Early adult 4.26×10-05
mydriasis Kdm8tm1b(EUCOMM)Wtsi HET Early adult 5.44×10-05
corneal vascularization Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.92×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 75% (3 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

29 Images

Echo

M-Mode Images

68 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Kdm8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kdm8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Abnormality of skin pigmentation OMIM:300719
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, Blue irides, White eyelashes, Generalized hypopigm... OMIM:103500
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Aniridia 3
Cataract OMIM:617142
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Miosis, Macular atrophy, Retinal dystrophy,... OMIM:212550
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Urocanase Deficiency
Fair hair, Blue irides, Tremor OMIM:276880
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Woolly Hair
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Miosis, Macular edema, Nuclear cataract, Increased c... ORPHA:280914
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Gia... ORPHA:54
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Blue irides, Iris transilluminati... ORPHA:352731
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Griscelli Syndrome Type 1
Premature graying of hair, Retinopathy, Partial albinism, White hair, Iris hypopigmentation ORPHA:79476
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Hypopigmentati... OMIM:203200
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased ner... ORPHA:101082
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Mios... ORPHA:280921
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy ORPHA:247815
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Abnormal retinal v... ORPHA:2119
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- an... OMIM:601706
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, Iris hypopigmentation ORPHA:67048
Trichomegaly
Cataract OMIM:190330
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Intestinal Botulism
Mydriasis ORPHA:178481
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Galactosemia Iv
Cataract OMIM:618881
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Wound Botulism
Mydriasis, Cardiac arrest ORPHA:178475
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Astigmatism, Ocular albinism, Iris hypopigm... ORPHA:999
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Dysequilibrium Syndrome
Cataract ORPHA:1766
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Galactosemia Ii
Cataract OMIM:230200
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Phenylketonuria
Fair hair, Cataract, Blue irides, Generalized hypopigmentation OMIM:261600
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cataract... OMIM:611040
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Spastic Ataxia 7, Autosomal Dominant
Congenital miosis, Optic atrophy OMIM:108650
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Aganglionic megacolon... ORPHA:2885
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Inhalational Botulism
Mydriasis ORPHA:254504
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Reduced C-reactive protein level, Increased circulating IgE leve... OMIM:618944
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Neovascular Glaucoma
Iris neovascularization, Abnormal anterior chamber morphology, Retinal vascular proliferation, Re... ORPHA:94058
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Infant Botulism
Cardiac arrest, Hypotension, Keratoconjunctivitis sicca, Mydriasis, Hypertension ORPHA:178478
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Optic... OMIM:204200
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Aganglionic megacolon, Arrhythmia ORPHA:2151
Serotonin Syndrome
Abnormality of the autonomic nervous system, Hypotension, Mydriasis, Hypertension, Tachycardia, T... ORPHA:43116
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism OMIM:614171
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Hypopigmentati... ORPHA:79431
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Oculocutaneous Albinism Type 5
Ocular albinism, Abnormal fundus morphology, Hypoplasia of the fovea ORPHA:370091
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Hermansky-Pudlak Syndrome 11
Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Ocular albinism, Mel... OMIM:619172
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Keratoconjunctivitis sicca, Keratitis, Corneal neovascularization, Conj... OMIM:278730
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Cataract, Optic atrophy ORPHA:329314
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level OMIM:615767
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Mydriasis, Hypertension, Retinal infarction OMIM:613834
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Small for gestational age, Increased circulating I... OMIM:617241
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, Aganglionic megacolon, White fore... OMIM:172800
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Osteopetrosis, Autosomal Recessive 5
Facial palsy, Mydriasis, Optic disc pallor, Optic atrophy OMIM:259720
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Astigmatism, Albinism, Blue irides, Ocular alb... OMIM:203100
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Increased circulating IgE level OMIM:212050
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Hypopigmentation of hair, Hypopigmented skin patches,... ORPHA:3214
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Corneal neovascularization, Uveitis, Keratoconjunctivitis sicca OMIM:617388
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid, Ir... ORPHA:2969
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White forelock, Blue... OMIM:148820
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Congestive heart failure, Cataract, Hypertrophic cardiomyopathy, Macular... ORPHA:225
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Mucoepithelial Dysplasia, Hereditary
Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation, Cerebral hemorrhage, Subarachnoid hemorrhag... ORPHA:53719
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae OMIM:615877
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy OMIM:614879
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Cataract 11, Multiple Types
Cataract OMIM:610623
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Mucolipidosis Iv
Retinal degeneration, Dystonia, Corneal opacity, Opacification of the corneal stroma, Optic atrophy OMIM:252650
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Optic atrophy, Pulmonary embolism, Retinal detachment, C... ORPHA:3205
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Hypertension ORPHA:3156
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Anisocoria
Anisocoria OMIM:106240
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Hyperpigmentation of the s... OMIM:231550
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy OMIM:619727
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Developmental And Epileptic Encephalopathy 35
Cataract, Cardiomyopathy, Limb tremor OMIM:616647
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Hypert... ORPHA:1764
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Abnormality of humoral immunity, Increased circulating IgE level, Lack of T ce... ORPHA:277
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract OMIM:615458
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Frontofacionasal Dysplasia
Microcornea, Cataract, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Cataract 47
Microcornea, Cataract OMIM:612018
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the corneal stroma, Bru... OMIM:614866
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Intention tremor, Decreased nerve conduction velocity, Rod-cone dystrophy, ... OMIM:612674
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the corneal stroma, Bru... OMIM:214110
Peeling Skin Syndrome 1
Abnormality of hair texture, Brittle hair, Increased circulating IgE level OMIM:270300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Bickerstaff Brainstem Encephalitis
Abnormality of the autonomic nervous system, Abnormal cranial nerve morphology, Decreased motor n... ORPHA:79138
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Facial Spasm
Anisocoria OMIM:134300
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity OMIM:615990
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Keratoconus, Optic atrophy, Abnormal retinal vascu... ORPHA:791
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract OMIM:608763
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Arachnoid Cyst
Facial palsy, Mydriasis, Subarachnoid hemorrhage, Cranial nerve compression ORPHA:2356
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Tremor, Ventricular... ORPHA:90068
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Attenuated Ch├ędiak-Higashi Syndrome
Epistaxis, Ocular albinism, Generalized hypopigmentation ORPHA:352723
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism, Epistaxis OMIM:614076
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Arrhythmia, Abnormal autonomic nervous system physiology, Mydriasis, C... ORPHA:2131
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Zellweger Syndrome
Posterior embryotoxon, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield s... ORPHA:912
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Mental Retardation, Buenos Aires Type
Fair hair, Blue irides OMIM:249630
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Microcephaly-Microcornea Syndrome, Seemanova Type